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Table 1 Age at diagnosis for seven congenital endocrine diseases, by age category

From: Age at diagnosis in patients with chronic congenital endocrine conditions: a regional cohort study from a reference center for rare diseases

  Number of patients (Female%) Missing data
N (%)
Median age at diagnosis (years) Patients diagnosed
< 5 years old
Patients diagnosed
[5–11) years old
Patients diagnosed [11–18)
years old
Patients diagnosed
≥18 years old
Idiopathic isolated growth hormone deficiency 1593
(38.5%)
97
(6.1%)
8.42
(4.42-11.33)
418
(26.2%)
637
(40%)
435
(27.3%)
6
(0.4%)
Ectopic posterior pituitary syndrome 364
(38.7%)
0 3.42
(0.50-7.50)
230
(63.2%)
90
(24.7%)
41
(11.3%)
3
(0.8%)
Isolated congenital hypogonadotropic hypogonadism 761
(39.3%)
48
(6.3%)
17.42
(14.00-25.00)
105
(13.8%)
21
(2.8%)
237
(31.1%)
350
(46%)
Turner syndrome* 1478
(100%)
38
(2.6%)
9.00**
(0.67-13.69)
478
(32.3%)
397
(26.9%)
393
(26.6%)
172
(11.6%)
McCune-Albright Syndrome 38
(94.7%)
1
(2.6%)
4.67
(2.50-6.58)
23
(60.5%)
12
(31.6%)
2
(5.3%)
ND
Complete androgen insensitivity syndrome 77
(100%)
7
(9.1%)
9.25
(0.21-16.00)
33
(42.8%)
3
(3.9%)
17
(22.1%)
17
(22.1%)
Gonadal dysgenesis 46,XY/45,X 68
(27.9%)
3
(4.4%)
0.00
(0.00-9.25)
45
(66.2%)
6
(8.8%)
8
(11.8%)
6
(8.8%)
  1. Values are expressed as median ± quartiles, or number (%)
  2. *Antenatal diagnosis in Turner syndrome: n = 160 (10.8%)
  3. **Median age of patients with Turner syndrome diagnosed postnatally: 10.83 (7.00–15.00) years